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GALE V94M [cytosol]
Stable Identifier
R-HSA-5609999
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
UDP-galactose 4-epimerase apoenzyme, UDP-galactose 4-epimerase, UDP-glucose 4-epimerase, GALE_HUMAN, UDP-glucose 4-epimerase , Galactowaldenase, UDP- galactose 4-epimerase
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective GALE causes EDG (Homo sapiens)
Defective GALE does not epimerise UDP-Gal to UDP-Glc (Homo sapiens)
GALE V94M:GALE V94M:NAD+:NAD+ [cytosol] (Homo sapiens)
GALE V94M [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q14376 GALE
Gene Names
GALE
Chain
chain:1-348
Reference Genes
BioGPS Gene:2582 GALE
COSMIC (genes):GALE GALE
CTD Gene:2582 GALE
dbSNP Gene:2582 GALE
ENSEMBL:ENSG00000117308 GALE
HGNC:4116 GALE
KEGG:hsa:2582 GALE
Monarch:2582 GALE
NCBI Gene:2582 GALE
OMIM:606953 GALE
UCSC:Q14376 GALE
Reference Transcript
RefSeq:NM_000403.3 GALE
RefSeq:NM_001127621.1 GALE
RefSeq:NM_001008216.1 GALE
Other Identifiers
11734086_a_at
11734087_x_at
11753268_a_at
11758531_x_at
1557649_PM_at
1557649_at
1557651_3p_x_at
1557651_PM_x_at
1557651_x_at
16683397
202528_PM_at
202528_at
2401582
2401583
2401584
2401585
2401586
2401587
2401588
2401589
2401590
2401591
2401592
2401593
2401594
2401595
2401596
2401597
2401598
2401599
2401600
2401601
2401602
2401603
2401604
2401605
2401606
2401607
2401608
2582
31598_s_at
7913667
A_23_P160154
GE62206
GO:0003824
GO:0003974
GO:0003978
GO:0005829
GO:0005975
GO:0006012
GO:0016853
GO:0019388
GO:0033499
GO:0042802
GO:0042803
HMNXSV003020273
Hs2.397230.1.S1_3p_s_at
ILMN_1714157
ILMN_1777523
ILMN_1792168
L41668_rna1_at
PH_hs_0004388
TC01002350.hg
g9945333_3p_at
Participates
as a component of
GALE V94M:GALE V94M:NAD+:NAD+ [cytosol] (Homo sapiens)
Other forms of this molecule
GALE [cytosol]
Modified Residues
Name
L-valine 94 replaced with L-methionine
Coordinate
94
PsiMod
L-methionine residue [MOD:00022]
A protein modification that effectively converts a source amino acid residue to L-methionine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name
Identifier
Synonyms
galactosemia
DOID:9870
Galactose intolerance, Galactosaemia
Cross References
ZINC - World Drugs
GALE_HUMAN
ENSEMBL
ENSP00000483375
,
ENST00000374497
,
ENST00000617979
,
ENSP00000363621
OpenTargets
ENSG00000117308
ZINC - Substances
GALE_HUMAN
ZINC target
Q14376
PRO
Q14376
GlyGen
Q14376
PDB
1HZJ
,
1I3K
,
1I3N
,
1I3L
,
1EK6
,
1EK5
,
1I3M
IntEnz
5.1.3.2
HPA
ENSG00000117308-GALE
Pharos - Targets
Q14376
Orphanet
GALE
ZINC - Predictions - Purchasable
GALE_HUMAN
HMDB Protein
HMDBP00904
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